Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001304504.2

p.T9I

c.26C>T

NM_001304504.2

p.E17V

c.50A>T

NM_001304504.2

p.R81Q

c.242G>A

NM_001304504.2

p.K92N

c.276G>T

NM_001304504.2

p.E116K

c.346G>A

NM_001304504.2

p.R198Q

c.593G>A

NM_001304504.2

p.E205_K206Splc

c.616-1G>A

NM_001304504.2

p.E205_K206Splc

c.616-1G>T

NM_001304504.2

p.P219S

c.655C>T

NM_001304504.2

p.T222I

c.665C>T

NM_001304504.2

p.R232G

c.694C>G

NM_001304504.2

p.E286D

c.858G>C